NHGRI's William Gahl Honored with Top Governmental Service Award

On Feb. 9, William A. Gahl, M.D., Ph.D., clinical director of the National Human Genome Research Institute (NHGRI), received the Dr. Nathan Davis Award for Outstanding Government Service for his work establishing the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP), a trans-NIH initiative that aims to provide diagnoses to patients with mysterious medical conditions. Dr. Gahl accepted the American Medical Association's (AMA) highest award on behalf of the thousands of patients with rare and undiagnosed disorders.

"Many of my patients represent the medically underserved," said Dr. Gahl, who received the award at the AMA National Advocacy Conference at the Grand Hyatt Washington Hotel in Washington, D.C. "They provide the ongoing assurance that compels me and my colleagues at the bedside, at the bench and in the NIH Undiagnosed Diseases Program to pursue this work with a passion for care and discovery."

Of eight possible categories, Dr. Gahl was recognized as a federal executive branch member in career public service and is the first honoree to represent NHGRI. Fourteen of the 25 past recipients in the same category have been leaders at NIH, including seven NIH center or institute directors.

"NHGRI's intramural research community celebrates recognition of one of our own," said NHGRI Scientific Director Daniel Kastner, M.D., Ph.D.. "Dr. Gahl richly deserves this high distinction from the medical community for his achievements in clinical research and dedication to patient care."

"As the founding director of the UDP, Dr. Gahl has brokered a unique combination of medical and scientific resources to make genetic discoveries and further the research of undiagnosed diseases," NHGRI Director Eric D. Green, M.D., Ph.D., wrote in a nomination letter last fall. "Dr. Gahl has recruited the most contemporary genomic experts and technologies to the UDP, quickly demonstrating the role of detailed genomic studies in unraveling the genetic basis of mystery diseases. These efforts are establishing new paradigms for investigating and diagnosing rare genetic disorders."

"Award winners come from every branch of government service and are a testament to the important roles public officials play in creating and implementing health policy that benefits Americans," said AMA Board Chairwoman Ardis Dee Hoven, M.D., in a press announcement. This year marks the 22nd anniversary of the Dr. Nathan Davis Awards, which were named for the 19th century physician and AMA founder.

Dr. Gahl studies rare inborn errors of metabolism, seeing patients in the clinic and conducting biochemical and biological investigations in the laboratory. He is an international expert in cystinosis, a multisystemic disease that causes kidney failure at age 10 due to lysosomal storage of cystine; Hermansky-Pudlak syndrome, a disorder of albinism and bleeding due to improper formation of vesicles within cells; alkaptonuria, a devastating joint disease of adults; and disorders of free sialic acid metabolism. He has published more than 280 articles, reviews and book chapters. Currently, 25 of Dr. Gahl's fellows are certified in Clinical Biochemical Genetics. He has won previous awards from the National Organization for Rare Disorders and the Alliance of Genetics Support Groups for his service to the rare disease community.

Dr. Gahl received his undergraduate degree from the Massachusetts Institute of Technology in 1972 and his M.D. and Ph.D. degrees from the University of Wisconsin. He completed a residency and chief residency in pediatrics at the University of Wisconsin and a postdoctoral fellowship in genetics at NIH. Dr. Gahl is certified in pediatrics, clinical genetics, and clinical biochemical genetics by the American Board of Medical Genetics. He is a member of the board of directors of the American Board of Medical Genetics, past president of the Society for Inherited Metabolic Disorders, and a member of the American Society of Clinical Investigation and the Association of American Physicians.